Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.G176E
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ABHD12

NM_001042472.3:p.G176E

Associated Papers

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.

Long X et al.

Bmc Medical Genomics, 2024

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Ngo KJ et al.

Human Mutation, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."